Abnormalities in Spinal neurons and Dorsal Root Ganglion Cells in Tangier Disease Presenting with a Syringomyelia‐like Syndrome
Abnormalities in Spinal neurons and Dorsal Root Ganglion Cells in Tangier Disease Presenting with a Syringomyelia‐like Syndrome
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表现为脊髓空洞样综合征的丹吉尔病中脊髓神经元和背根神经节细胞的异常
DOI：
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发表时间：
1987
影响因子：
3.2
通讯作者：
G. Boysen
中科院分区：
文献类型：
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作者：
Henning Schmalburch;S. Stender;G. Boysen
一例纯合子Tangier病女性患者出现进行性脊髓炎样神经病变。她在61岁时死于心力衰竭。60岁时进行的腓肠神经活检显示许旺氏细胞和间质细胞中存在脂质储存，并且无髓鞘纤维明显丢失。L5脊神经节的神经元，并在较小程度上，所有神经元的骶脊髓，含有大的脂质夹杂物，在电子显微镜下不同于那些在雪旺氏细胞和卫星细胞。胶质细胞内无贮存物质。神经元包涵体是膜结合的，由电子致密和电子透明成分组成。脊神经节中有神经元死亡的证据，直径直方图显示小细胞优先丢失。包涵体可能是次级溶酶体或残留体，类似于巨大的脂褐质颗粒。然而，与对照神经节中的老化色素相比，它们是无色的并且显示出弱的自发荧光。初步认为Tangier病的脊髓炎样神经病变是一种溶酶体贮积症，优先影响小的背根神经节细胞。
A woman with homozygous Tangier disease had progressive syringomyelia-like neuropathy. She died with cardiac failure at age 61. A sural nerve biopsy taken at age 60 had shown lipid storage in Schwann and interstitial cells, and a pronounced loss of unmyelinated fibers. The neurons of the L5 spinal ganglion and, to a lesser extent, all neurons of the sacral spinal cord, contained large lipid inclusions which in electron micrographs differed from those in Schwann and satellite cells. There was no storage material in glial cells. The neuronal inclusions were membrane-bound and consisted of electron-dense and electron-lucent components. There was evidence of neuronal death in the spinal ganglion, and a diameter histogram showed that small cytons had preferentially been lost. The inclusions probably were secondary lysosomes or residual bodies, and resembled giant lipofuscin granules. Nevertheless, they were uncolored and displayed weak autofluorescence as compared to the aging pigment in control ganglia. It is tentatively suggested that the syringomyelia-like neuropathy in Tangier disease represents a lysosomal storage disorder preferentially affecting small dorsal root ganglion cells.